Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 2026
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation.
Usuda K et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
COVID-19 vaccination in patients with long QT syndrome.
Wu CI et al.
Heart Rhythm O2, 2022
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.
Blanch-Asensio A et al.
Cell Reports Methods, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.
Nakajima T et al.
International Journal of Molecular Sciences, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Torsades De Pointes Electrical Storm Induced by H1N1 in a Patient with KCNH2 Variant of Unknown Significance.
Khiatah B et al.
Case Reports in Cardiology, 2020
An Overview of Diagnosis and Management Strategies for Long QT Syndrome.
Etheridge SP et al.
The Journal of Innovations in Cardiac Rhythm Management, 2017
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
Perry MD et al.
The Journal of Physiology, 2016
Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Long QT syndrome: beyond the causal mutation.
Amin AS et al.
The Journal of Physiology, 2013
[Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy].
Jorge C et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2011
Fever-induced QTc prolongation and ventricular fibrillation in a healthy young man.
Lim SM et al.
Yonsei Medical Journal, 2011
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Fever-triggered ventricular arrhythmias in Brugada syndrome and type 2 long-QT syndrome.
Amin AS et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2010
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.
Johnson JN et al.
Neurology, 2009
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.
Amin AS et al.
The Journal of Clinical Investigation, 2008
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.
Tan HL et al.
Circulation, 2006
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
Larsen LA et al.
Clinical Genetics, 2000
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).
Wilde AA et al.
Journal of the American College of Cardiology, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999